Desmin

DES
Identifiers
Aliases	DES, CSM1, CSM2, LGMD2R, desmin, LGMD1D, CMD1F, CDCD3, LGMD1E
External IDs	OMIM: 125660; MGI: 94885; HomoloGene: 56469; GeneCards: DES; OMA:DES - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	219,426,734 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	75,345,223 bp
RNA expression pattern
	Top expressed in
	saphenous vein; ; apex of heart; ; gastrocnemius muscle; ; muscle of thigh; ; gastric mucosa; ; right auricle; ; left ventricle; ; myocardium of left ventricle; ; thoracic diaphragm; ; muscle layer of sigmoid colon;
	Top expressed in
	muscle of thigh; ; gastrula; ; ankle; ; triceps brachii muscle; ; temporal muscle; ; esophagus; ; medial head of gastrocnemius muscle; ; digastric muscle; ; sternocleidomastoid muscle; ; decidua;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein binding; structural constituent of cytoskeleton; identical protein binding; structural molecule activity; cytoskeletal protein binding;
Cellular component	intercalated disc; sarcolemma; intermediate filament cytoskeleton; cytoplasm; contractile fiber; cytosol; neuromuscular junction; membrane; Z discdkac; plasma membrane; fascia adherens; cytoskeleton; extracellular exosome; intermediate filament; cell-cell junction; cardiac myofibril; nucleus;
Biological process	muscle contraction; intermediate filament organization; cytoskeleton organization; muscle filament sliding; regulation of heart contraction;
	Sources:Amigo / QuickGO
Orthologs
	1674
	13346
	ENSG00000175084
	ENSMUSG00000026208
	P17661
	P31001
	NM_001927
	NM_010043
NP_001918; NP_001369637; NP_001369638; NP_001369639; NP_001369640;
	NP_001369641; NP_001369642
	NP_034173
	Wikidata
View/Edit Human	View/Edit Mouse

Desmin is a protein that in humans is encoded by the DES gene.^[5]^[6] Desmin is a muscle-specific, type III intermediate filament^[7] that integrates the sarcolemma, Z disk, and nuclear membrane in sarcomeres and regulates sarcomere architecture.^[8]^[9]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000175084 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026208 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Muñoz-Mármol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, et al. (September 1998). "A dysfunctional desmin mutation in a patient with severe generalized myopathy". Proceedings of the National Academy of Sciences of the United States of America. 95 (19): 11312–11317. Bibcode:1998PNAS...9511312M. doi:10.1073/pnas.95.19.11312. PMC 21639. PMID 9736733.
^ Li ZL, Lilienbaum A, Butler-Browne G, Paulin D (May 1989). "Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development". Gene. 78 (2): 243–254. doi:10.1016/0378-1119(89)90227-8. PMID 2673923.
^ "Desmin", The Human Protein Atlas. Proteinatlas.org. Retrieved on 2013-07-29.
^ Brodehl A, Gaertner-Rommel A, Milting H (August 2018). "Molecular insights into cardiomyopathies associated with desmin (DES) mutations". Biophysical Reviews. 10 (4): 983–1006. doi:10.1007/s12551-018-0429-0. PMC 6082305. PMID 29926427.
^ Sequeira V, Nijenkamp LL, Regan JA, van der Velden J (February 2014). "The physiological role of cardiac cytoskeleton and its alterations in heart failure". Biochimica et Biophysica Acta (BBA) - Biomembranes. 1838 (2): 700–722. doi:10.1016/j.bbamem.2013.07.011. PMID 23860255.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000175084 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026208 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9736733-5] Muñoz-Mármol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, et al. (September 1998). "A dysfunctional desmin mutation in a patient with severe generalized myopathy". Proceedings of the National Academy of Sciences of the United States of America. 95 (19): 11312–11317. Bibcode:1998PNAS...9511312M. doi:10.1073/pnas.95.19.11312. PMC 21639. PMID 9736733.

[pmid2673923-6] Li ZL, Lilienbaum A, Butler-Browne G, Paulin D (May 1989). "Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development". Gene. 78 (2): 243–254. doi:10.1016/0378-1119(89)90227-8. PMID 2673923.

[7] "Desmin", The Human Protein Atlas. Proteinatlas.org. Retrieved on 2013-07-29.

[Brodehl_2018-8] Brodehl A, Gaertner-Rommel A, Milting H (August 2018). "Molecular insights into cardiomyopathies associated with desmin (DES) mutations". Biophysical Reviews. 10 (4): 983–1006. doi:10.1007/s12551-018-0429-0. PMC 6082305. PMID 29926427.

[9] Sequeira V, Nijenkamp LL, Regan JA, van der Velden J (February 2014). "The physiological role of cardiac cytoskeleton and its alterations in heart failure". Biochimica et Biophysica Acta (BBA) - Biomembranes. 1838 (2): 700–722. doi:10.1016/j.bbamem.2013.07.011. PMID 23860255.

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